A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198937



Internal ID22348601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:34777607..34777669hg38UCSC Ensembl
chr1:35243208..35243270hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181n152
Supporting Variantsnssv14393645
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198937
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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